Warning: Undefined array key "mm" in /www/wwwroot/www.ai-bt.com/si.php on line 10 Deprecated: trim(): Passing null to parameter #1 ($string) of type string is deprecated in /www/wwwroot/www.ai-bt.com/si.php on line 10 Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.

Literature DB >> 24397416

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.

Anthony Blaeser¹, Susan Sparks, Susan C Brown, Kevin Campbell, Qi Lu.

Abstract

Entities: Chemical

Keywords: dystroglycan; dystroglycanopathy; fukutin related protein; glycosylation; muscular dystrophy; therapy

Mesh：

Year: 2014 PMID： 24397416 PMCID： PMC8029240 DOI： 10.1111/bpa.12118

Source DB: PubMed Journal: Brain Pathol ISSN： 1015-6305 Impact factor: 6.508

× No keyword cloud information.

24 in total

Review 1. The congenital muscular dystrophies: recent advances and molecular insights.

Authors: Jerry R Mendell; Daniel R Boué; Paul T Martin
Journal: Pediatr Dev Pathol Date: 2006 Nov-Dec

2. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

Authors: Yiumo Michael Chan; Elizabeth Keramaris-Vrantsis; Hart G Lidov; James H Norton; Natalia Zinchenko; Helen E Gruber; Randy Thresher; Derek J Blake; Jignya Ashar; Jeffrey Rosenfeld; Qi L Lu
Journal: Hum Mol Genet Date: 2010-07-30 Impact factor: 6.150

3. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

Authors: G Tasca; F Moro; C Aiello; D Cassandrini; C Fiorillo; E Bertini; C Bruno; F M Santorelli; E Ricci
Journal: Neurology Date: 2013-02-06 Impact factor: 9.910

4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

Authors: M Brockington; D J Blake; P Prandini; S C Brown; S Torelli; M A Benson; C P Ponting; B Estournet; N B Romero; E Mercuri; T Voit; C A Sewry; P Guicheney; F Muntoni
Journal: Am J Hum Genet Date: 2001-10-08 Impact factor: 11.025

5. Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

Authors: Anthony Blaeser; Elizabeth Keramaris; Yiumo M Chan; Susan Sparks; Dale Cowley; Xiao Xiao; Qi Long Lu
Journal: Hum Genet Date: 2013-04-17 Impact factor: 4.132

6. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

Authors: Dirk J Lefeber; Johannes Schönberger; Eva Morava; Mailys Guillard; Karin M Huyben; Kiek Verrijp; Olga Grafakou; Athanasios Evangeliou; Frank W Preijers; Panagiota Manta; Jef Yildiz; Stephanie Grünewald; Martha Spilioti; Christa van den Elzen; Dominique Klein; Daniel Hess; Hisashi Ashida; Jan Hofsteenge; Yusuke Maeda; Lambert van den Heuvel; Martin Lammens; Ludwig Lehle; Ron A Wevers
Journal: Am J Hum Genet Date: 2009-07-02 Impact factor: 11.025

7. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Authors: Rita Barone; Chiara Aiello; Valérie Race; Eva Morava; Francois Foulquier; Moniek Riemersma; Chiara Passarelli; Daniela Concolino; Massimo Carella; Filippo Santorelli; Wendy Vleugels; Eugenio Mercuri; Domenico Garozzo; Luisa Sturiale; Sonia Messina; Jaak Jaeken; Agata Fiumara; Ron A Wevers; Enrico Bertini; Gert Matthijs; Dirk J Lefeber
Journal: Ann Neurol Date: 2012-10 Impact factor: 10.422

Third International Workshop for Glycosylation Defects in Muscular Dystrophies, 18-19 April 2013, Charlotte, USA.

Review 1. The congenital muscular dystrophies: recent advances and molecular insights.

2. Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.

3. Limb-girdle muscular dystrophy with α-dystroglycan deficiency and mutations in the ISPD gene.

4. Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.

5. Mouse models of fukutin-related protein mutations show a wide range of disease phenotypes.

6. Deficiency of Dol-P-Man synthase subunit DPM3 bridges the congenital disorders of glycosylation with the dystroglycanopathies.

7. DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

8. Fer kinase regulates cell migration through α-dystroglycan glycosylation.

9. Identification of new dystroglycan complexes in skeletal muscle.

10. Xylosyl- and glucuronyltransferase functions of LARGE in α-dystroglycan modification are conserved in LARGE2.

Review 1. The Dystrophin Complex: Structure, Function, and Implications for Therapy.